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- W2025783487 abstract "We report on a girl with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Presumably she has normal height, but short nose, short hands, and normal mentation; and on roentgenograms short and wide humeri, symmetrical brachymetacarpy, especially of the 4th metacarpals, and hypoplastic distal phalanges, sagittal clefting of vertebral bodies, and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. It is an apparently new syndrome of chondrodysplasia punctata (CP), quite distinct from the classic form (Conradi-Hünermann type), as well as the other well-defined forms of CP. We thus suggest the term chondrodysplasia punctata, humero-metacarpal (HM) type." @default.
- W2025783487 created "2016-06-24" @default.
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- W2025783487 date "1991-12-15" @default.
- W2025783487 modified "2023-10-17" @default.
- W2025783487 title "Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero-metacarpal (HM) type: Variation or heterogeneity?" @default.
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- W2025783487 doi "https://doi.org/10.1002/ajmg.1320410406" @default.
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